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Query: UMLS:C0020672 (hypothermia)
 17,327 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Postpump chorea (PPC) is the development of choreoathetoid movements within 2 weeks following cardiopulmonary bypass. Over a 10-year period, 668 children underwent open cardiac surgery, of whom 8 (1.2%) developed PPC. Age at surgery ranged from 8 to 34 months. The onset of chorea was 3 to 12 days following surgery. Computed tomography and magnetic resonance imaging showed atrophy but no focal lesions. Cerebral positron emission tomography using [18F]fluorodeoxyglucose in a patient following 12 months of chorea showed patchy areas of decreased glucose metabolism. None of the patients were developmentally normal 22 to 130 months following surgery. Three patients have had transient and 5 have persistent chorea. Neurological deficits ranged from a mild learning disability to progressive hypotonia and obtundation ending in death. One of 4 patients who received haloperidol had a decrease in the severity of chorea. We compared PPC patients with 39 randomly selected controls. During surgery, affected patients spent significantly more time on pump and at temperatures under 36 degrees C, were cooled to lower temperatures than controls, and were more likely to have had a circulatory arrest. One patient developed chorea without a history of circulatory arrest. We conclude that (1) there is a strong association between PPC, deep hypothermia, and circulatory arrest, (2) absence of characteristic macroscopic changes suggests a biochemical or microembolic etiology in some cases, (3) chorea is frequently associated with developmental delay, and (4) the prognosis for complete resolution of chorea is guarded.
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PMID:A 10-year experience with postpump chorea. 825 May 31

Hypoxia-ischemia damages selected regions of the immature at different ages. Prior to 32 weeks gestation the periventricular white matter is selectively vulnerable but in the last trimester the basal ganglia become especially vulnerable to injury. Hypoxia-ischemia causes injury by activating a series of biochemical events that unfolds over a period of hours to days following the initial insult and we are investigating the ways in which age modifies these events. The cascade includes release of glutamate, overstimulation of excitatory amino acid receptors and raised intracellular levels of calcium. Clinically this series is manifested by hypoxic-ischemic encephalopathy (HIE), a syndrome that includes coma, seizures, a burst suppression EEG, respiratory depression and severe hypotonia. Clinical studies have established a relationship between the severity of neonatal encephalopathy and later manifestations of brain damage or cerebral palsy. Potential neuroprotective therapies need to be effective when given after the insult but the 'therapeutic time window' for most N-methyl-D-aspartate (NMDA) glutamate antagonists is limited after injury. Using a model of hypoxic-ischemic injury and neonatal rats and hypothermic-circulatory arrest in dogs, we found that immunohistochemical staining for neuronal nitric oxide synthase (nNOS) is markedly increased from 6 to 24 h after the insult in the basal ganglia and cortex. The induction of nNOS preceded the time of maximal neuronal necrosis and during the time when many apoptotic nuclei were appearing. We have also found that a brief period of 2 h of mild hypothermia (32 degrees C) following hypoxia-ischemia in neonatal rats delayed neuronal necrosis by more than a week. We are determining whether this delay is related to a change in nNOS activation. Induction of nNOS in the post-insult period may contribute to expression of injury and signs of encephalopathy following a hypoxic-ischemic insult.
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PMID:Hypoxic and ischemic disorders of infants and children. Lecture for 38th meeting of Japanese Society of Child Neurology, Tokyo, Japan, July 1996. 918 71

To determine whether lumbar puncture is necessary in the evaluation of neonates with risk for infection or suspected sepsis in the first 72 hours of life, we reviewed the laboratory and medical records of 506 infants who had lumbar punctures between January 1988 and December 1990. Neonates < 72 hours of age accounted for 52% of all lumbar punctures, but no case of meningitis. This led to a policy shift from routinely performing lumbar punctures to reserving them for infants with signs of severe sepsis (i.e. lethargy, hypothermia, hypotonia, poor perfusion or apnoea), specific neurological signs or clinical deterioration. This new policy was monitored prospectively from July 1991 to December 1993. Three times fewer procedures were performed in neonates < 72 hours, and there was no diagnosed or missed case of meningitis. Given that meningitis is rare within the first 72 hours of life and the yield of lumbar puncture virtually zero, we recommend that lumbar punctures be reserved for selected infants.
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PMID:Evaluation of neonates with risk for infection/suspected sepsis: is routine lumbar puncture necessary in the first 72 hours of life? 949 Nov 9

Menkes disease is a rare X-linked recessive disease of copper metabolism. Clinical manifestations begin in the first few months of life or even in the neonatal period. Hypothermia, hypotonia, poor weight gain, seizures and neurodevelopmental delay or regression are seen. Outcome is poor, with death occurring usually by 3 years of age. A characteristic facial appearance with steely hair suggest the diagnosis. Neuroimaging usually shows cortical atrophy, extra-axial fluid collections and progressive and extensive degeneration of grey matter with secondary demyelination. We describe an atypical, but biochemically proven case of Menkes disease with atypical clinical and radiological features. Our patient had a large head, atypical electron microscopy appearances of the hair and predominant diffuse white matter involvement on neuroimaging, but a low serum copper level and a high 64CU uptake in fibroblasts (89.5 ng/mg of protein) confirmed the diagnosis.
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PMID:Menkes kinky hair disease: an unusual case. 1087 9

A 1-month-old infant with Peters anomaly had recurrent episodes of unresponsiveness, hypotension, hypotonia, hypothermia, and bradycardia. An extensive medical evaluation determined these episodes to be caused by brimonidine, an anti-glaucoma agent. There is the potential for serious toxic effects from the systemic absorption of topically applied ophthalmic agents in children.
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PMID:Ophthalmic drops causing coma in an infant. 1200 70

Aromatic L-amino acid decarboxylase (AADC - E.C. 4.1.1.28) converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Inherited deficiency of this enzyme leads to decreased brain levels of these neurotransmitters. Clinically this results in the development of a progressive neurometabolic disorder characterized by severe hypotonia, dystonic and choreoathetoid movements, oculogyric crises, and hypothermia from infancy. Here we describe the clinical, biochemical and molecular details of two affected brothers, one of whom, despite the lack of AADC, presented with hyperdopaminuria. In addition, we detail his reactions to treatment with dopaminergic agonists, monoamine oxidase inhibitors and pyridoxine.
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PMID:Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. 1236 91

A term male newborn, appropriate for gestational age, developed hypothermia, severe cardiac dysrrhythmia, and nonoliguric hyperkalemia within 24 hours of birth. Despite the prenatal identification of cystic renal dysplasia without oligohydramnios, at birth, a solitary left leg vascular hemangioma and large palpable kidneys were the only anomalies. Gradually hypotonia, lethargy, and poor feeding developed and by 20 hours of age recurrent cardiac dysrrhythmias, myocardial dysfunction, and renal insufficiency with intermittent hyperkalemia were apparent. Episodes of apnea developed on day 7 followed by respiratory failure, recurrent cardiac dysrrhythmias, and death on day 12. Eventually laboratory and autopsy findings confirmed the diagnosis of lethal neonatal carnitine palmitoyltransferase II deficiency.
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PMID:Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. 1263 78

Pituitary coma is a rare case of emergency and primarily due to ACTH and TSH deficiency. Pituitary coma occurs more often in patients with well-known pituitary deficiency than in patients with intrasellar tumor. Clinical manifestations are hypotonia, bradycardia, decreased skin and nipple pigmentation, muscle weakness, vomitus, nausea, obstipation, hypothermia, and hypoventilation. A postpartal agalactia is often the first sign of Sheehan's syndrome. Unlike primary adrenal insufficiency (Addison's disease) ACTH deficiency does not cause hyperpigmentation, hyperkalemia, or salt loss. The suspicion of pituitary coma requires replacement with 100 mg hydrocortisone iv, 200 mg hydrocortisone iv/24 h, 500 micro g levothyroxine iv and fluid substitution. Since thyroxine accelerates the degradation of cortisol and can precipitate adrenal crisis in patients with limited pituitary reserve, hydrocortisone replacement should always precede levothyroxine therapy. ACTH stimulation test, CRH stimulation test and insulin tolerance test (optional) should be performed after therapeutic compensation to determine pituitary function.
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PMID:[Hypophyseal coma]. 1468 87

The case of a 16-month-old boy is described who had typical clinical and radiological features and was proven biochemically to be a case of Menke's disease. Clinical manifestations began in the first few months with hypothermia, hypotonia, seizures and death occurring at the age of 18 months.
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PMID:Menke's kinky hair syndrome--a rare medical condition. 1581 96

Aromatic l-aminoacid decarboxylase (AADC) deficiency is a neurotransmitter defect leading to a combined deficiency of catecholamines and serotonin. Patients are usually detected in infancy due to developmental delay, hypotonia, and extrapyramidal movements. Diagnosis is based on an abnormal neurotransmitter metabolite profile in CSF and reduced AADC activity in plasma. An elevation of vanillactic acid (VLA) has been described as the only abnormality detected in organic acid analysis (OA) of urine. We report a patient who presented in the neonatal period with lethargy, hypotonia, metabolic acidosis, and hypoglycemia. Blood ammonia, lactic acid, and acylcarnitines were normal, but OA of a urine sample showed a small increase of VLA, raising the suspicion of AADC deficiency. The patient was lost to follow-up until the age of 8 months, when he presented with dystonia, abnormal movements, oculogyric crises, and hypothermia. Repeat OA showed not only increased levels of VLA, but also increased vanilpyruvic acid (VPA), N-acetyl-vanilalanine (AVA) and N-acetyl-tyrosine (NAT). Neurotransmitter analysis in CSF showed increased vanilalanine (1200 nmol/L, ref<100) with decreased levels of 5-hydroxy-indoleacetic acid (5-HIAA, < 5 nmol/L; ref 152-462), homovanillic acid (HVA, 83 nmol/L; ref 302-845), and methoxy-hydroxy-phenyl-glycol (<5 nmol/L; ref 51-112). AADC activity in plasma was nearly undetectable. In the urine, low excretion of vanilmandelic acid (<0.3 micromol/mmol creat; ref 0.3-20) and 5-HIAA (0.9 micromol/mmol creat; ref 4-18), was found, but HVA was normal and dopamine even elevated. This contradictory phenomenon of hyperdopaminuria has been described earlier in AADC deficient patients. We postulate that VPA and AVA could originate from vanilalanine (through a transaminase and an acetylase respectively), while NAT could originate from tyrosine through an AA acetylase. This report expands the clinical presentation of AADC deficiency and adds new markers of the disease for OA analysis, improving detection of AADC deficient patients in general metabolic screening procedures.
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PMID:Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. 1628 91


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